DYT11
MCID: DYS098
MIFTS: 37

Dystonia-11, Myoclonic (DYT11) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dystonia-11, Myoclonic

Aliases & Descriptions for Dystonia-11, Myoclonic:

Name: Dystonia-11, Myoclonic 54 50
Myoclonic Dystonia 23 50 24 25 66 52 69
Hereditary Essential Myoclonus 23 50 24 25
Myoclonus-Dystonia 23 50 24 25
Dyt11 50 24 25 66
Alcohol-Responsive Dystonia 50 25 66
Myoclonus-Dystonia Syndrome 50 25 66
Dystonia, Myoclonic 24 29 13
Dystonia 11 23 50 24
Myoclonus, Hereditary Essential 50
Dystonia, Alcohol Responsive 50
Dystonia 11, Myoclonic 66
Dystonia-11 66
Myoclonus 42
Dyt-Sgce 50

Characteristics:

GeneReviews:

23
dystonia-11, myoclonic:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset incomplete penetrance


GeneReviews:

23
Penetrance Reduced penetrance on maternal transmission of the disease allele has been observed, suggesting that maternal genomic imprinting of sgce suppresses expression of the maternally inherited sgce allele [zimprich et al 2001]...

Classifications:



External Ids:

OMIM 54 159900
MedGen 40 C1834570

Summaries for Dystonia-11, Myoclonic

Genetics Home Reference : 25 Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.

MalaCards based summary : Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and myoclonus, and has symptoms including myoclonus, tremor and torticollis. An important gene associated with Dystonia-11, Myoclonic is SGCE (Sarcoglycan Epsilon). The drugs Zonisamide and Anticonvulsants have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and muscle

OMIM : 54 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal... (159900) more...

UniProtKB/Swiss-Prot : 66 Dystonia 11, myoclonic: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.

Wikipedia : 71 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...

GeneReviews: NBK1414

Related Diseases for Dystonia-11, Myoclonic

Graphical network of the top 20 diseases related to Dystonia-11, Myoclonic:



Diseases related to Dystonia-11, Myoclonic

Symptoms & Phenotypes for Dystonia-11, Myoclonic

Symptoms by clinical synopsis from OMIM:

159900

Clinical features from OMIM:

159900

Human phenotypes related to Dystonia-11, Myoclonic:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 tremor 32 HP:0001337
3 torticollis 32 HP:0000473
4 depression 32 HP:0000716
5 muscular hypotonia 32 HP:0001252
6 anxiety 32 HP:0000739
7 obsessive-compulsive behavior 32 HP:0000722
8 agoraphobia 32 HP:0000756
9 writer's cramp 32 HP:0002356

UMLS symptoms related to Dystonia-11, Myoclonic:


torticollis, tremor

GenomeRNAi Phenotypes related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.28 DRD2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.28 SGCE
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.28 DRD2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.28 DRD2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.28 SGCE
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.28 SGCE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.28 DRD2 SGCE
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.28 SGCE

MGI Mouse Phenotypes related to Dystonia-11, Myoclonic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 DRD2 SGCE TOR1A

Drugs & Therapeutics for Dystonia-11, Myoclonic

Drugs for Dystonia-11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
2 Anticonvulsants Phase 3
3 Protective Agents Phase 3
4 Antioxidants Phase 3
5
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
6
Promethazine Approved Phase 2 60-87-7 4927
7 Dihydroxyphenylalanine

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3
2 Pilot Efficacy Study of T2000 in Myoclonus Dystonia Terminated NCT00506012 Phase 2
3 Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor Study Completed NCT01495897
4 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424

Search NIH Clinical Center for Dystonia-11, Myoclonic

Cochrane evidence based reviews: myoclonus

Genetic Tests for Dystonia-11, Myoclonic

Genetic tests related to Dystonia-11, Myoclonic:

id Genetic test Affiliating Genes
1 Myoclonic Dystonia 29
2 Dystonia, Myoclonic 24 DRD2
3 Myoclonus-Dystonia 24 SGCE

Anatomical Context for Dystonia-11, Myoclonic

Publications for Dystonia-11, Myoclonic

Variations for Dystonia-11, Myoclonic

UniProtKB/Swiss-Prot genetic disease variations for Dystonia-11, Myoclonic:

66 (show all 13)
id Symbol AA change Variation ID SNP ID
1 SGCE p.Leu196Arg VAR_026750 rs121908491
2 SGCE p.Thr36Arg VAR_066732
3 SGCE p.His60Pro VAR_066733
4 SGCE p.His60Arg VAR_066734
5 SGCE p.Met92Thr VAR_066735
6 SGCE p.Trp100Gly VAR_066736
7 SGCE p.Gly112Arg VAR_066737
8 SGCE p.Tyr115Cys VAR_066738
9 SGCE p.Leu175Ser VAR_066739
10 SGCE p.Ser177Cys VAR_066740
11 SGCE p.Leu184Pro VAR_066741
12 SGCE p.Trp270Arg VAR_066742
13 SGCE p.Cys271Tyr VAR_066743 rs372686312

ClinVar genetic disease variations for Dystonia-11, Myoclonic:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SGCE NM_003919.2(SGCE): c.464_662del199 deletion Pathogenic GRCh38 Chromosome 7, 94604254: 94619273
2 SGCE NM_003919.2(SGCE): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs121908489 GRCh37 Chromosome 7, 94257615: 94257615
3 SGCE NM_003919.2(SGCE): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908490 GRCh37 Chromosome 7, 94257600: 94257600
4 SGCE SGCE, 1-BP DEL, 565A deletion Pathogenic
5 SGCE SGCE, 97-BP DEL deletion Pathogenic
6 SGCE NM_003919.2(SGCE): c.835_839delACAAA (p.Thr279Alafs) deletion Pathogenic rs863223283 GRCh38 Chromosome 7, 94600844: 94600848
7 SGCE NM_003919.2(SGCE): c.587T> G (p.Leu196Arg) single nucleotide variant Pathogenic rs121908491 GRCh37 Chromosome 7, 94248145: 94248145
8 SGCE NM_003919.2(SGCE): c.884dupT (p.Leu295Phefs) duplication Pathogenic rs863223284 GRCh37 Chromosome 7, 94230111: 94230111
9 SGCE SGCE, 1-BP DEL, 974C deletion Pathogenic
10 SGCE NM_003919.2(SGCE): c.1114C> T (p.Arg372Ter) single nucleotide variant Pathogenic rs121908492 GRCh37 Chromosome 7, 94228226: 94228226
11 SGCE SGCE, 6,872-BP DEL, EX6DEL deletion Pathogenic
12 SGCE NM_003919.2(SGCE): c.619_620delAG (p.Arg207Glyfs) deletion Pathogenic rs863223285 GRCh38 Chromosome 7, 94618800: 94618801
13 SGCE NM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs) deletion Pathogenic rs794727794 GRCh38 Chromosome 7, 94603343: 94603344
14 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672
15 SGCE NM_001099400.1(SGCE): c.783dupA (p.Phe262Ilefs) duplication Pathogenic GRCh37 Chromosome 7, 94232644: 94232644

Copy number variations for Dystonia-11, Myoclonic from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 229165 7 88000000 97900000 Deletion DLX5 Myoclonus-dystonia
2 229166 7 88000000 97900000 Deletion DLX6 Myoclonus-dystonia
3 229167 7 88000000 97900000 Deletion KRIT1 Myoclonus-dystonia
4 229168 7 88000000 97900000 Deletion SHFM1 Myoclonus-dystonia

Expression for Dystonia-11, Myoclonic

Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for Dystonia-11, Myoclonic

GO Terms for Dystonia-11, Myoclonic

Cellular components related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.62 DRD2 SGCE

Biological processes related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.62 DRD2 TOR1A

Sources for Dystonia-11, Myoclonic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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